Recessive X-linked ichthyosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RXLI XLI Steroid sulfatase deficiency X-linked ichthyosis |
| Number of Symptoms | 10 |
| OrphanetNr: | 461 |
| OMIM Id: |
300001
308100 |
| ICD-10: |
Q80.1 |
| UMLs: |
C0079588 C2717836 |
| MeSH: |
D016114 |
| MedDRA: |
10048063 |
| Snomed: |
402771003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 16.6 of 100 000 [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ichthyosis associated with ocular features
-Rare eye disease -Rare genetic disease Inherited ichthyosis nonsyndromic form -Rare genetic disease -Rare skin disease Metabolic disease with corneal opacity -Rare eye disease -Rare genetic disease Syndromic corneal dystrophy -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
|
|
(HPO:0000481) | Abnormality of the cornea | Frequent [Orphanet] | 124 / 7739 | |||
|
|
(HPO:0000752) | Hyperactivity | Frequent [Orphanet] | 140 / 7739 | |||
|
|
(HPO:0000717) | Autism | Occasional [Orphanet] | 108 / 7739 | |||
|
|
(HPO:0002167) | Neurological speech impairment | Occasional [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
|
|
(HPO:0000958) | Dry skin | Very frequent [Orphanet] | 152 / 7739 | |||
|
|
(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
|
|
(HPO:0003220) | Abnormality of chromosome stability | Very frequent [Orphanet] | 98 / 7739 | |||
|
|
(HPO:0004370) | Abnormality of temperature regulation | Very frequent [Orphanet] | 58 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|